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Clinical Chemistry
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July 20, 2025
Diagnostic Value of Digital Estimates of Trophoblastic Mosaicism in Genome-Wide Cell-Free Fetal DNA Screening
Geert A Martens, Dieter De Smet, Guy Froyen, et al.
American Journal of Human Genetics
|
December 17, 2009
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination
Joke Vandewalle, Hilde Van Esch, Karen Govaerts, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society
|
March 8, 2005
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis
Joris R Vermeesch, Cindy Melotte, Guy Froyen, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2014
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes
Anju K Philips, Auli Sirén, Kristiina Avela, et al.
Plos One
|
December 5, 2013
Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability
Joke Vandewalle, Marion Langen, Marlen Zschätzsch, et al.
Human Mutation
|
May 10, 2016
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, et al.
International Journal of Laboratory Hematology
|
July 20, 2017
Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics
B Maes, J Willemse, A Broekmans, et al.
European Journal of Medical Genetics
|
November 6, 2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Ludmila Kousoulidou, Sven Parkel, Olga Zilina, et al.
European Journal of Human Genetics : EJHG
|
October 10, 2013
A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations
Cíntia Barros Santos-Rebouças, Stefanie Belet, Luciana Guedes de Almeida, et al.
Nature Genetics
|
April 17, 2007
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia
Idoya Lahortiga, Kim De Keersmaecker, Pieter Van Vlierberghe, et al.
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Search research articles
Search
Showing results (141-150 of 172) with videos related to
Sort By:
Page
of 18
Clinical Chemistry
|
July 20, 2025
Diagnostic Value of Digital Estimates of Trophoblastic Mosaicism in Genome-Wide Cell-Free Fetal DNA Screening
Geert A Martens, Dieter De Smet, Guy Froyen, et al.
American Journal of Human Genetics
|
December 17, 2009
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination
Joke Vandewalle, Hilde Van Esch, Karen Govaerts, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society
|
March 8, 2005
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis
Joris R Vermeesch, Cindy Melotte, Guy Froyen, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2014
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes
Anju K Philips, Auli Sirén, Kristiina Avela, et al.
Plos One
|
December 5, 2013
Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability
Joke Vandewalle, Marion Langen, Marlen Zschätzsch, et al.
Human Mutation
|
May 10, 2016
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, et al.
International Journal of Laboratory Hematology
|
July 20, 2017
Targeted next-generation sequencing using a multigene panel in myeloid neoplasms: Implementation in clinical diagnostics
B Maes, J Willemse, A Broekmans, et al.
European Journal of Medical Genetics
|
November 6, 2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Ludmila Kousoulidou, Sven Parkel, Olga Zilina, et al.
European Journal of Human Genetics : EJHG
|
October 10, 2013
A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations
Cíntia Barros Santos-Rebouças, Stefanie Belet, Luciana Guedes de Almeida, et al.
Nature Genetics
|
April 17, 2007
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia
Idoya Lahortiga, Kim De Keersmaecker, Pieter Van Vlierberghe, et al.
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of 18